RGD:156335588 Rat Genome Database

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Variant: RGD:156335588 -  Homo sapiens

RGD ID: 156335588
ClinVar ID: CV2109250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,185,345
GRCh38 7 44,145,746
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1074t1:c.1020-16T>A
LRG_1074t2:c.1023-16T>A
NM_001354802.1:c.-121-16T>A
NM_033508.3:c.1017-16T>A
More... 		09/27/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:XM_024446707
Location:5UTRS;INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:5UTRS;INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002938613 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR